title: Mannan-binding lectin genotypes and genotype-phenotype relationships in a large cohort of Polish neonates.
abstract: Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. These data from a large cohort of neonates, representing an ethnically homogenous population, suggest that the current knowledge of the genetics of MBL2 is inadequate to predict serum MBL concentration and MBL-dependent lectin pathway activity in individual subjects.
authors.affiliation: Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland. aswierzko@cbm.pan.pl
authors.forename: Anna St
authors.initials: AS
authors.lastname: Swierzko
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szala
authors.forename: Maciej
authors.initials: M
authors.lastname: Cedzynski
authors.forename: Iwona
authors.initials: I
authors.lastname: Domzalska-Popadiuk
authors.forename: Monika
authors.initials: M
authors.lastname: Borkowska-Klos
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jopek
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szczapa
authors.forename: Janusz
authors.initials: J
authors.lastname: Szemraj
authors.forename: Anne P M
authors.initials: AP
authors.lastname: Atkinson
authors.forename: Shirley L
authors.initials: SL
authors.lastname: MacDonald
authors.forename: Marc L
authors.initials: ML
authors.lastname: Turner
authors.forename: David C
authors.initials: DC
authors.lastname: Kilpatrick
mesh_terms: D000328:Adult; D000483:Alleles; D015331:Cohort Studies; D003167:Complement Activation; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D010641:Phenotype; D011044:Poland; D011247:Pregnancy
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin